Blood test for autism could speed diagnosis

Vanderbilt University is part of a multi-site autism clinical study designed to evaluate the effectiveness of a blood test that aims to screen children for referral for autism spectrum disorder (ASD) evaluation earlier and more accurately.

The 660-child, 20-site, clinical study in the United States and Canada is funded by the SynapDx Corp. and also includes Boston Children’s Hospital, Mount Sinai Hospital, Nationwide Children’s Hospital and the University of California-Davis MIND Institute.

“The best outcome would be a test that can be used to help identify children at risk who can then receive a definitive evaluation,” said Vanderbilt site co-investigator Jeremy Veenstra-VanderWeele, M.D., associate professor of Psychiatry, Pediatrics and Pharmacology.

“We don’t need another 10 studies that are in small samples saying this approach might be useful. We need one study that says, ‘Yes, it is’ or ‘No, it’s not’ and this study is designed to do that.”

Screening children for a possible ASD is currently an uncertain process, with pediatricians sometimes using symptom checklists but more often relying on clinical exams or parents’ expression of concerns. In part as a result of inadequate screening, the average age of diagnosis of ASD is 4.5 years old, despite symptoms typically emerging before age 2.

“There is an ever growing body of research suggesting that appropriately intensive early intervention can dramatically shift outcomes for children with ASD,” said Vanderbilt principal investigator Zachary Warren, Ph.D., associate professor of Pediatric, Psychiatry and Special Education. “As a field we are really hoping to develop measures and systems of care that can accurately identify children with ASD at very young ages.”

SynapDx’s blood test measures differences in RNA gene expression to provide families with an ASD risk factor for their child to help clinicians make faster, more accurate referral decisions.

“It is a simple blood draw, and they are looking at gene expression changes in blood cells. In this case you are looking at white blood cells to see what genes are expressed at what level,” Veenstra-VanderWeele said. “These changes won’t be diagnostic, but they will allow a calculation of risk for an individual child.”

“Based on a referral due to clinical concerns, we are completing a gold-standard assessment and simultaneously gathering blood to test whether or not we may be able to identify a meaningful biomarker that could help shape identification and referral in community practice over time,” Warren added.

Since December 2012, SynapDx has raised more than $9 million in funding from various investors and collaborators, including North Bridge Venture Partners, General Catalyst Partners, LabCorp and the Kraft Group. SynapDx also recently announced a strategic alliance with next-generation sequencing pioneer Illumina.

“We’ve spent the past three years collaborating with experts to refine our approach and demonstrate that RNA expression analysis is the key to transforming the ASD diagnostic process,” said Stanley Lapidus, CEO, SynapDx. “This study is the next crucial step in evaluating our test’s potential to give clinicians and parents the answers they need to make appropriate treatment decisions — sooner — for children with ASD.”